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Clinical bioinformatics: a new emerging science

DOI: 10.1186/2043-9113-1-1

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Abstract:

Clinical bioinformatics is a new emerging science combining clinical informatics, bioinformatics, medical informatics, information technology, mathematics, and omics science together. At the beginning of the 20th century, clinical physicians needed to be informed and open to advances in omics technology despite the barriers which existed for physicians applying genetic tests, for example the low tolerance for uncertainty, negative attitudes about their responsibility for genetic counseling and testing, and unfamiliarity with ethical issues raised by testing [1]. Since the middle of the 20th century, bioinformatics was suggested to be applied for clinical toxicology [2] and cancer [3]. One of the early studies on expressed sequence tags in human stem cells by bioinformatics was performed in 1998 [4], where near 10000 sequences were analyzed. Of these, 48% showed the identity to known genes in the GenBank database, 26.4% matched to the previously deposited in a public domain database, 14% were previously undescribed sequences, and the remaining 12% were mitochondrial DNA, ribosomal RNA, or repetitive sequences. At the beginning of the 21st century, gene expression profiles in 60 human cancer cell lines used in a drug discovery screen were evaluated by cDNA microarrays and corrected with drug activity patterns by combining bioinformatics and chemoinformatics [5]. Clinical bioinformatics was initially proposed to provide biological and medical information for individualized healthcare, enable researchers to search online biological databases and use bioinformatics in medical practice, select appropriate software to analyze the microarray data for medical decision-making, optimize the development of disease-specific biomarkers, and supervise drug target identification and clinical validation [6].Clinical bioinformatics plays an important role in a number of clinical applications, including omics technology, metabolic and signaling pathways, biomarker discovery and develo

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